Abstract:
:Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance. The diagnosis of adult NCL may be suggested by a careful evaluation of skin, rectal or brain biopsies with the electron microscope but the diagnosis is fraught with many hazards. The pathogenetic defect lies probably in the intracellular processing of lysosomal and perhaps of Golgi membranes. The recent discovery of subunit c of mitochondrial adenosine triphosphate synthase in the stored cytosomes represents certainly an interesting prospect for future developments.
journal_name
Dev Neuroscijournal_title
Developmental neuroscienceauthors
Martin JJdoi
10.1159/000112182subject
Has Abstractpub_date
1991-01-01 00:00:00pages
331-8issue
4-5eissn
0378-5866issn
1421-9859journal_volume
13pub_type
杂志文章,评审abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disability, sensory hypersensitivity, and high incidences of autism spectrum disorders and epilepsy. These phenotypes are suggestive of defects in neural circuit development and imbalances in excitatory glutamatergic and inhibitory...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000329420
更新日期:2011-01-01 00:00:00
abstract::Perinatal hypoxic ischemic (HI) brain injury is a leading cause of long-term neurological handicap in newborn babies. Recently, excessive activity of matrix metalloproteinases (MMPs), and in particular MMP-9, has been implicated in the aetiology of HI injuries to the immature brain. Our previous study suggested that M...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000343257
更新日期:2012-01-01 00:00:00
abstract::It has been demonstrated that postweaning social isolation alters dendritic development in the medial prefrontal cortex (mPFC) of the rat. In addition, (-)-deprenyl, a monoamine oxidase B (MAO-B) inhibitor, promotes dendritic growth in prefrontocortical pyramidal cells. This study examined whether prefrontocortical de...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000096413
更新日期:2007-01-01 00:00:00
abstract::Cultures of rat oligodendrocytes were used to test the possible role of the cerebellar soluble lectin (CSL) in myelin formation. Immunocytochemistry at the ultrastructural level showed that the lectin is present in the cytoplasm of the perikaryon of cultured oligodendrocytes and also on the plasma membrane of the cell...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111970
更新日期:1988-01-01 00:00:00
abstract::Glutamine synthesis, the major pathway of ammonia detoxification, and the intracellular concentration of organic osmolytes in primary astrocytes and F98 glioma cells were investigated with multinuclear magnetic resonance spectroscopy. Acute exposure to ammonia (3 h incubation with NH4Cl) raised the concentration of gl...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017339
更新日期:1998-01-01 00:00:00
abstract::In some cells, the development of voltage-gated channels requires synaptic input, while in others it does not. Here we investigate whether the sodium and potassium currents in the skeletal muscle of zebrafish sofa potato (sop(-/-)) mutants develop normally. Zebrafish sop(-/-) mutants do not express nicotinic acetylcho...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000207794
更新日期:2009-01-01 00:00:00
abstract::This study investigated the time of expression of two endothelial cell adhesion molecules, ICAM-1/CD54 and PECAM-1/CD31 in the developing postpartum mouse blood-brain barrier (BBB). Immunoultrastructural studies demonstrated that both adhesion molecules are initially expressed primarily on the luminal endothelial cell...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017352
更新日期:1998-01-01 00:00:00
abstract::Neuronal heterotopia is a malformation of cortical development that is closely associated with epilepsy in humans. Despite emerging interest in the structure and function of the heterotopic cortex, little is known about the membrane properties and synaptic connections of these displaced neurons. We used whole-cell pat...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017386
更新日期:1999-11-01 00:00:00
abstract::In cultured glial cells from chick embryonic brain, both influx and efflux of 42K+ and 22Na+ are dependent on the external Ca++ and concentration ([Ca++]0) between 2 and 0.1 mM although intracellular concentrations of K+ ([K+]i) and Na+ ([Na+]i) do not change. Only a reduction of [Ca++]0 below 0.1 mM results in both a...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112664
更新日期:1982-01-01 00:00:00
abstract::We have shown that the developmentally regulated appearance of the two myelin-associated glycoprotein (MAG) polypeptides in normal mouse brain myelin does not reflect the developmental pattern of differential splicing of primary gene transcripts as determined earlier by RNase protection assays. Contrary to expectation...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111857
更新日期:1990-01-01 00:00:00
abstract::The lipids of white matter and peripheral nerve from mutant mice with known myelin deficiencies were analyzed by one- and two-dimensional high-performance thin-layer chromatography and quantitated by densitometry. In optic nerve, the mutants jp/Y, jpmsd/Y, qk/qk, shi/shi and shimld/shimld, which have severe central ne...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111961
更新日期:1988-01-01 00:00:00
abstract::The expression of voltage-gated potassium channels plays an important role in the acquisition of membrane excitability in neurons. We examined the expression pattern of genes in developing cerebellar granule neurons in vivo and in vitro. In situ hybridization of Kv3.1 mRNA demonstrated that the gene was expressed at h...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017370
更新日期:1999-01-01 00:00:00
abstract::A leading hypothesis of the cause of neuronal death in Huntington's disease (HD) is excitotoxicity, in which subpopulations of striatal neurons are hypersensitive to glutamate release due to changes in postsynaptic N-methyl-D-aspartate receptors (NMDARs). In the present study we used RT-PCR methods on single cells and...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000091921
更新日期:2006-01-01 00:00:00
abstract::Traumatic brain injury (TBI) is the leading cause of death and disability in children. Evidence-based guidelines for the management of this population are available; however, the data highlight significant deficiencies with few treatment standards or guidelines. Considering the limited availability of resources, it is...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000094153
更新日期:2006-01-01 00:00:00
abstract::Neonatal stroke leads to mortality and severe morbidity, but there is no effective treatment currently available. Erythropoietin (EPO) has been shown to promote cytoprotection and neurogenesis and decrease subventricular zone morphologic changes following brain injury. The long-term cellular response to EPO has not be...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000105473
更新日期:2007-01-01 00:00:00
abstract::Several studies have shown that exogenous gangliosides can stimulate neurite outgrowth (in vitro), accelerate peripheral nerve regeneration (in vivo) and facilitate CNS recovery after lesioning. Experiments were designed to assess the effects of ganglioside administration on neonatal development. Rat neonates received...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112339
更新日期:1983-01-01 00:00:00
abstract::Rats were exposed to mild hyperoxia and hypoxia by the administration of oxygen/air and nitrogen/air mixtures through plastic tubing held close to their snouts for periods of 3 min. Changes in tissue oxygen were monitored at an implanted carbon paste electrode; local cerebral blood flow (rCBF) at an implanted platinum...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017298
更新日期:1998-01-01 00:00:00
abstract::The auditory system of the cricket has the unusual ability to respond to deafferentation by compensatory growth and synapse formation. Auditory interneurons such as ascending neuron 2 (AN-2) in the cricket Gryllus bimaculatus possess a dendritic arbor that normally grows up to, but not over, the midline of the prothor...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000322887
更新日期:2011-01-01 00:00:00
abstract::A total of 216 male and female albino Wistar rats (Rattus norvegicus) between 10 and 60 days old from 42 litters were studied to determine mast cell characteristics within the thalamus. Whereas the mean numbers of mast cells within both the parenchyma and leptomeninges (combined) did not change appreciably after 15 da...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112759
更新日期:1981-01-01 00:00:00
abstract::The neurotoxic effect of monosodium L-glutamate (MSG) on the morphologies in the darkly stained sexually dimorphic nucleus of the preoptic area (SDN-POA) and the lighter-staining surrounding area (non-SDN-POA) within the medial preoptic nucleus (MPN) was evaluated. Male and female Long-Evans rats were used. MSG (4 mg/...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111231
更新日期:1997-01-01 00:00:00
abstract::The postnatal development of the complexes of the electron transport chain in mitochondria isolated from rat brain synaptosomes was investigated. Synaptosomal brain mitochondria were isolated from rats aged 10-60 days, and the activities of mitochondrial complex I, complex II-III, complex IV and complex V were measure...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111289
更新日期:1995-01-01 00:00:00
abstract::In the era of therapeutic hypothermia, reliable preclinical studies are integral to successfully identify neuroprotective strategies to further improve outcomes of encephalopathy at term. We reviewed preclinical neuroprotection studies reported between January 2014 and June 2016 to assess the use of effective temperat...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000452859
更新日期:2017-01-01 00:00:00
abstract::A glia-derived neurite-promoting factor has been purified from medium conditioned by C6 rat glioma cells. It induces neurite outgrowth in cultured mouse neuroblastoma cells and inhibits granule cell migration in explants of mouse cerebellum. This factor is a potent serine protease inhibitor which has recently been sho...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111951
更新日期:1988-01-01 00:00:00
abstract::Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Ou...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000112170
更新日期:1991-01-01 00:00:00
abstract::Although cortical malformations (CMs) are often associated with epilepsy, the underlying mechanisms are unknown. The reeler mouse is a model of CM with enhanced susceptibility to epileptiform activity, including the in vitro dentate gyrus, a region normally resistant to seizures. In this study, field potential recordi...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000096212
更新日期:2007-01-01 00:00:00
abstract::Hypoxic-ischemic brain injury is a leading cause of neurodevelopmental morbidities in preterm and full-term infants. Blood-brain barrier dysfunction represents an important component of perinatal hypoxic-ischemic brain injury. The extracellular matrix (ECM) is a vital component of the blood-brain barrier. Matrix metal...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000489700
更新日期:2018-01-01 00:00:00
abstract::Fragments of corpus callosum from P13 normal and jimpy (jp) mutant mice (containing only postmigrating precursors and differentiated oligodendrocytes (ODCs, some of them myelinating soon) have been transplanted into the thalamus of newborn shiverer (shi) mutant mice. The behaviour of transplanted ODCs has been assayed...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111654
更新日期:1992-01-01 00:00:00
abstract::Steroid hormones have profound effects on vertebrate behaviors. Yet, in most cases we can neither identify the neurons responsible for particular behaviors nor how steroids alter their excitability. Electric fish emit sexually dimorphic electric organ discharges (EODs) the waveform of which may be altered by steroid t...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000111399
更新日期:1996-01-01 00:00:00
abstract::We have previously shown that a single intracranial injection of apotransferrin (aTf) in neonatal rats produces an accelerated mylinogenesis and increases the expression of certain myelin proteins such as myelin basic protein (MBP). In the present work, we studied the effects of aTf upon oligodendrocyte progenitor cel...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000064945
更新日期:2002-01-01 00:00:00
abstract::Schizophrenia is a chronic and debilitating mental illness characterized by a broad range of abnormal behaviors, including delusions and hallucinations, impaired cognitive function, as well as mood disturbances and social withdrawal. Due to the heterogeneous nature of the disease, the causes of schizophrenia are very ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000346157
更新日期:2013-01-01 00:00:00